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New genetic cause of corneal dystrophy discovered

27 March 2018

A new genetic cause of corneal dystrophy has been discovered by researchers at Moorfields and the UCL Institute of Ophthalmology.

Corneal endothelial dystrophies are a group of inherited eye disorders which affect the endothelium, a thin single layer of specialised cells that line the back of the cornea – the clear window at the front of the eye. The endothelium is vital in maintaining the transparency of the clear surface of the cornea.

Using new techniques to sequence the human genome, the research team discovered the genetic cause of a rare form of corneal dystrophy called posterior polymorphous corneal dystrophy (PPCD), which can cause severe sight loss.

The research was supported by Fight for Sight and Moorfields Eye Charity.

Mr Stephen Tuft, consultant ophthalmologist at Moorfields Eye Hospital said: “This work has provided a major insight into the cause of this enigmatic disease. We anticipate that this will open doors to develop new treatments for corneal opacity”

Professor Alison Hardcastle, UCL Institute of Ophthalmology said: “This study is not only important for understanding what is required for a healthy cornea and how it is faulty in disease, but also represents an important advance in human genetics.”